We evaluated the iron status and searched for mutations C282Y and H63D in the hereditary hemochromatosis gene (HFE) in 34 pyruvate kinase (PK)-deficient patients from 29 unrelated families. Nine had received multiple transfusions. Thirteen of the 25 nontransfused patients displayed increased serum ferritin concentration, in the absence of conditions known to raise this parameter. HFE genotype was abnormal in 9 of 34 patients. The allele frequency was 1.8% for mutation 845G--> (C282Y) and 16.1% for mutation 187C-->G (H63D). Nontransfused subjects with abnormal genotype had serum ferritin and transferrin saturation values significantly higher than those with wild-type genotype. Of the 12 adult nontransfused patients with increased iron status parameters, 1 was C282Y homozygous, 1 compound heterozygous for C282Y and H63D, 3 H63D heterozygous, and 7 had a normal HFE genotype. Serum ferritin and transferrin saturation were not related to hemoglobin, reticulocytes, and bilirubin concentration. At multivariate analysis serum ferritin was independently associated with age and gender, but not with splenectomy and HFE genotypes. The retrospective evaluation of the iron status profile of 10 patients (3 with abnormal and 7 with wild-type HFE genotype) with at least 10 years follow-up showed that overt iron accumulation requiring iron chelation had occurred only in the 3 patients (2 of whom were splenectomized) with the mutated HFE gene.

Adolescent↗

PubMedDate not supplied

Red cell alloantibodies in thalassemia major. Results of an Italian cooperative study.

Clinical and serological data on 1435 Italian thalassemia major patients were collected during a cooperative study involving 19 centers in 10 regions. The main findings were as follows: 18 percent of the patients were under 6 years of age, 63 percent between 6 and 15, and 19 percent over 15. Forty-one percent had undergone splenectomy. Sixty-two percent of the patients were maintained at pretransfusion hemoglobin levels higher than 10 g per dl, 36 percent between 8 and 10 g per dl, and 2 percent below 8 g per dl. Overall, 5.2 percent of the patients had clinically significant red cell alloantibodies (136 alloantibodies in 74 patients). One-half of the immunized patients had more than one and one-fourth had more than two alloantibodies. The specificities of the 136 alloantibodies were almost exclusively confined to the common antigens of the Rh, Kell, Kidd, and Duffy systems, in that decreasing order of frequency. The antibody screening procedure, using a low-ionic-strength solution antiglobulin test against a three-red-cell panel and the patient's own red cells (autocontrol) with a serum to cell ratio of 100 to 1 was shown to be an adequate technique for red cell antibody detection.

Adolescent↗

PubMedDate not supplied

Screening and evaluation of blood donors with upper-limit hematocrit levels.

Eighty-one consecutive repeat male blood donors with hematocrit levels ranging from 0.49 to 0.54 underwent hematologic investigation, blood gas analysis, and respiratory function tests in order to ascertain whether they represent the upper end of the reference distribution or have underlying causes of erythrocytosis. Three of the 81 (3.7%) proved to have early-stage polycythemia rubra vera, nine (11.1%) to have erythrocytosis secondary to respiratory failure, and two (2.4%) to have relative erythrocytosis due to reduced plasma volume. Detection and evaluation of blood donors with high hematocrit values are ways in which blood banks could contribute to health screening and become involved in preventive medicine.

Adolescent↗

PubMedDate not supplied

Asymptomatic hepatitis G virus infection in blood donors.

BACKGROUND: Hepatitis G virus (HGV) has been reported in patients with fulminant hepatitis and aplastic anemia, but HGV RNA has also been found in healthy individuals. The possible associations of HGV with liver function and hematologic abnormalities in asymptomatic blood donors were investigated. STUDY DESIGN AND METHODS: Serum HGV RNA was determined in 200 repeat donors (Group A), 44 subjects with elevated alanine aminotransferase (Group B), and 54 hepatitis C virus carriers (Group C). Liver histology was evaluated in Group C by using the histologic activity index. RESULTS: HGV RNA was detected in three subjects of Group A (1.5%; 95% CI: 0.3-4.3), two of Group B (4.5%; 95% CI: 0.6-15.5%), and six of Group C (11.1%; 95% CI: 4.2-22.6). The prevalence of leukopenia and elevated gamma-glutamyl transpeptidase was higher in the 11 viremic donors than in 88 nonviremic subjects (36% vs. 2.3%, and 55% vs. 22%, respectively; p < 0.05), matched for clinical and demographic characteristics. The mean histologic activity index score +/- standard error was 4 +/- 0.7 in the HGV RNA-positive donors and 3.4 +/- 0.3 in the HGV RNA-negative donors. CONCLUSION: HGV is endemic in Italian blood donors, although it has a limited role in causing liver damage. Further studies are needed to clarify its role in inducing transfusion-associated disease in myelosuppression.

Adult↗